Iminoglycinuria

Homo sapiens

Disease Pathway

Created: 2013-08-20

Last Updated: 2018-12-21

Iminoglycinuria, sometimes called familial iminoglycinuria, is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline, leading to accumulation of these three acids in the urine. Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations which cause defects in both renal and intestinal transport systems of glycine and imino acids. Symptoms include urolithiasis, excessive imino acids in the urine, and mental retardation.

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